Evidence map›Paper›PMID 32027362›Full record

ArticleHuman molecular genetics2020

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Alan F Rope, Sarah Rosenheck, Sébastien Moutton, Christophe Philippe, Wafaa Eyaid and 19 more

Abstract readPublished Erratum
PubMed Full text at PMC Publisher
In one paragraph

Article in Human molecular genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
  2. Conformational plasticity links structural instability of NAA10Computational and structural biotechnology journal · 2024
    Article
  3. Article
  4. Review
  5. Variants in NAA15 cause pediatric hypertrophic cardiomyopathy.American journal of medical genetics. Part A · 2021
    Article
  6. NAA10 variant in 38-week-gestation male patient: a case study.Cold Spring Harbor molecular case studies · 2020
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

29 authors.

Hanyin ChengDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Leah GottliebDepartment of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Elaine MarchiDepartment of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
Robert KleynerStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA.
Puja BhardwajStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA.
Alan F RopeKaiser Permanente Center for Health Research, Portland, OR 97227, USA.
Sarah RosenheckStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, One Bungtown Road, Cold Spring Harbor, NY 11724, USA.
Sébastien MouttonReference Center for Developmental Anomalies, Department of Medical Genetics, Dijon University Hospital, Dijon, France.
Christophe PhilippeGénétique des Anomalies du développement, INSERM U1231, Lipides Nutrition et Cancer, UMR1231, Université de Bourgogne, F-21000, Dijon 21070, France.
Wafaa EyaidKing Abdulaziz Medical City, King Saud Bin AbdulAziz University-Health Science, King Abdullah International Medical Research Center, Riyadh 11426, Saudi Arabia.
Fowzan S AlkurayaDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Janet ToribioDivision of Cardiology, CEDIMAT, Santo Domingo 51000, Dominican Republic.
Rafael MenaNeonatal Intensive Care Unit, Centro de Obstetricia y Ginecologia, Santo Domingo, Dominican Republic.
Carlos E PradaDivision of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
Holly StessmanDepartment of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.
Raphael BernierDepartment of Psychiatry, University of Washington, Seattle, WA 98195, USA.
Marieke WermuthKlinik für Kinder-und Jugendmedizin, Neuropädiatrie, Klinikum Links der Weser, Senator-Weβling-Str.1. in 28211 Bremen, Germany.
Birgit KauffmannKlinik für Kinder-und Jugendmedizin, Neuropädiatrie, Klinikum Links der Weser, Senator-Weβling-Str.1. in 28211 Bremen, Germany.
Bettina BlaumeiserUniversity and University Hospital of Antwerp, Antwerp, Belgium.
R Frank KooyDepartment of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium.
Diana BaralleHuman Development and Health, Faculty of Medicine, University of Southampton, Southampton SO16 5YA, UK.
Grazia M S ManciniDepartment of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam 3015 GD, The Netherlands.
Simon J ConwayHB Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Fan XiaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Zhao ChenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Linyan MengDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Ljubisa MihajlovicGeneInfo, Human Genetics, 18000 Niš, Serbia.
Ronen MarmorsteinDepartment of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA.
Gholson J LyonDepartment of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.

Funding

Amino-terminal acetylation of proteins in mammalian biology and diseaseR35GM133408 · NIGMS · INSTITUTE FOR BASIC RES IN DEV DISABIL · PI LYON, GHOLSON · 2019 to 2023
$2.4M
Department of Health RP-2016-07-011NIGMS NIH HHS R35 GM133408
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Identifiers

PMID32027362
PMCPMC7104668

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.